Ontology highlight
ABSTRACT:
SUBMITTER: Keeling BH
PROVIDER: S-EPMC2845175 | biostudies-literature | 2010 Feb
REPOSITORIES: biostudies-literature
Keeling Brett H BH Vilariño-Güell Carles C Soto-Ortolaza Alexandra I AI Ross Owen A OA Uitti Ryan J RJ Rajput Alex A Wszolek Zbigniew K ZK Farrer Matthew J MJ
Parkinsonism & related disorders 20090920 2
A functional variant in the Histamine N-Methyltransferase gene (HNMT - rs11558538) resulting in a threonine to isoleucine substitution (Thr105Ile) has been shown to impair histamine degradation. Two recent studies reported that the threonine allele of this polymorphism might be a risk factor for Parkinson disease (PD) and essential tremor (ET) development. Although PD and ET are considered different entities, they share some clinical and pathological features, suggesting a possible joint etiolog ...[more]